Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations


Saltik-Temizel İ. N. , Coskun T., Yuce A., Kocak N.

TURKISH JOURNAL OF PEDIATRICS, cilt.47, ss.167-169, 2005 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 47 Konu: 2
  • Basım Tarihi: 2005
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.167-169

Özet

Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of: glucose transporter 2 (GLUT2) gene.